DisGeNET - a database of gene-disease associations

DKK1, dickkopf WNT signaling pathway inhibitor 1, 22943

N. diseases: 372; N. variants: 4

Disease: Arnold-Chiari Malformation, Type I ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0750929
Disease:	Arnold-Chiari Malformation, Type I

Arnold-Chiari Malformation, Type I

0.410

GeneticVariation

disease

BEFREE

Screening of DKK1 in a cohort of 65 CMI sporadic patients identified another missense variant, the c.359G>T (p.(R120L)), in two unrelated patients.

28513615

2017

CUI:	C0750929
Disease:	Arnold-Chiari Malformation, Type I

Arnold-Chiari Malformation, Type I

0.410

GermlineCausalMutation

disease

ORPHANET

Screening of DKK1 in a cohort of 65 CMI sporadic patients identified another missense variant, the c.359G>T (p.(R120L)), in two unrelated patients.

28513615

2017

CUI:	C0750929
Disease:	Arnold-Chiari Malformation, Type I

Arnold-Chiari Malformation, Type I

0.410

Biomarker

disease

HPO